Clinical and genetic analysis of Ulnar-Mammary syndrome caused by TBX3 de novo mutation in a boy and literature review
10.3760/cma.j.cn311282-20191225-00577
- VernacularTitle:TBX3基因突变导致Ulnar-Mammary综合征一例的临床及分子遗传学分析并文献复习
- Author:
Xiaoyan WANG
1
;
Xiuli CHEN
;
Haiying WU
;
Rongrong XIE
;
Fengyun WANG
;
Ting CHEN
;
Hui SUN
;
Dandan ZHANG
;
Linqi CHEN
Author Information
1. 苏州大学附属儿童医院内分泌遗传代谢科 215003
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(7):593-597
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic characteristics of a boy with Ulnar-Mammary syndrome(UMS), and to review the literature.Methods:The clinical and genetic data of a boy with UMS, who was admitted to the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Soochow University in May 2018 were analyzed. Original papers on UMS published up to July 2019 were retrieved.Results:A male patient at the age of 12 years and 8 months visited us for growth retardation. He presented with high forehead, epicanthic folds, broad nasal tip, anteverted nostrils, high palate, dental crowding, mammary gland hypoplasia, and absence of axillary hairs, with height 148.9 cm(<-1 SD). Growth hormone stimulation test indicated growth hormone deficiency(growth hormone peak <5 ng/ml). After one year of treatment with recombinant human growth hormone, his height was improved. Gene sequencing identified a de novo heterozygous mutation of TBX3 c. 711DelC(p.N238Mfs* 4). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases.However, this mutation was not detected in his parents.Conclusion:UMS should be considered in dwarfism with special face, dysplasia of external genitalia, sweat glands, and mammary glands, and TBX3 is a pathogenic gene.
